ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827103333
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182811
ClinVar RCV Id:
RCV000160898
RCV000215633
RCV000465290
RCV000758687
RCV000765966
RCV003416029
RCV003454388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Arg34His
CA012229
NM_001322004.2:c.101G>A